ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)

dbSNP: rs104886221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995521 SCV001149733 pathogenic X-linked Alport syndrome 2019-06-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288041 SCV001474852 pathogenic not provided 2019-12-31 criteria provided, single submitter clinical testing The variant disrupts a glycine residue in the canonical Gly-X-Y repeats of the triple helix domain, which are required for stability and structure of this protein. Therefore it is expected to severely affect the function of the protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000995521 SCV001192776 likely pathogenic X-linked Alport syndrome 2019-09-26 no assertion criteria provided clinical testing

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